Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Clin Genet
; 97(4): 567-575, 2020 04.
Article
in En
| MEDLINE
| ID: mdl-31997314
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Seizures
/
Chromosome Disorders
/
Epilepsy
/
Deubiquitinating Enzymes
/
Intellectual Disability
Type of study:
Prognostic_studies
Limits:
Animals
/
Female
/
Humans
/
Male
Language:
En
Journal:
Clin Genet
Year:
2020
Document type:
Article
Affiliation country:
Country of publication: